Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases

Cantrell syndrome (CS) is a rare congenital disorder involving defects in the thoraco-abdominal midline, the diaphragm, the pericardium, the sternum and the heart. Since the first description of the syndrome, 165 well-documented cases in humans have been reported, reflecting remarkable heterogeneity ranging from complete pentalogy to partial or atypical variants. We conducted a systematic review and classified body wall defects and associated anomalies into the following nine categories: midline defects, lateral defects, and special cases. Each case was reassessed for umbilical cord status, body wall morphology, cardiac anomalies and additional malformations. Midline defects predominated (152/165), with variants of supraumbilical defect being the most frequent; umbilical hernias accounted for ten cases as a distinct subgroup. Lateral defects were rare (nine cases, 5.5%), typically presenting with thoracogastroschisis or lateral thoracoabdominoschisis, and often associated with normal cords. Across all categories, cardiac anomalies were universal, with ventricular and atrial septal defects being the most common. Reclassification revealed that many cases originally labelled as 'classic PC' were better defined as partial or atypical forms. This unified framework clarifies the epidemiology, enhances diagnostic accuracy and, from a One Health perspective, highlights CS as a shared developmental vulnerability across species.